title: A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline.
abstract: OBJECTIVE
  SCA15 is a recently identified spinocerebellar ataxia with pure cerebellar involvement. Here, we report a novel SCA15 Italian family with atypical clinical features.
  
  
  METHODS
  Three affected members from a three-generation family segregating an autosomal dominant cerebellar ataxia underwent clinical examination and genetic tests for hereditary ataxia.
  
  
  RESULTS
  All affected members present with cognitive impairment and two of them with mild intermittent involuntary movements in association with the clinical hallmarks of SCA15 (gait ataxia, balance impairment, and dysarthria). Genetic tests detected a large deletion spanning ITPR1 and SUMF1 genes in affected members.
  
  
  CONCLUSIONS
  Our findings help enlarging the clinical spectrum of SCA15.
authors.affiliation: Clinica Neurologica, Università degli Studi di Perugia, Ospedale S. Maria della Misericordia, Perugia, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Castrioto
authors.forename: P
authors.initials: P
authors.lastname: Prontera
authors.forename: E
authors.initials: E
authors.lastname: Di Gregorio
authors.forename: V
authors.initials: V
authors.lastname: Rossi
authors.forename: L
authors.initials: L
authors.lastname: Parnetti
authors.forename: A
authors.initials: A
authors.lastname: Rossi
authors.forename: E
authors.initials: E
authors.lastname: Donti
authors.forename: A
authors.initials: A
authors.lastname: Brusco
authors.forename: P
authors.initials: P
authors.lastname: Calabresi
authors.forename: N
authors.initials: N
authors.lastname: Tambasco
mesh_terms: D000368:Aged; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics*; D004401:Dysarthria / Q000175:diagnosis / Q000235:genetics; D005260:Female; D020234:Gait Ataxia / Q000175:diagnosis / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D053496:Inositol 1,4,5-Trisphosphate Receptors / Q000235:genetics*; D008297:Male; D009069:Movement Disorders / Q000175:diagnosis / Q000235:genetics*; D050862:Oxidoreductases Acting on Sulfur Group Donors; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*; D013429:Sulfatases / Q000235:genetics
chemical_list: C506926:ITPR1 protein, human; D053496:Inositol 1,4,5-Trisphosphate Receptors; D050862:Oxidoreductases Acting on Sulfur Group Donors; C480483:SUMF1 protein, human; D013429:Sulfatases